Oral-Facial-Digital Syndrome Type II (Mohr Syndrome) in Palestine

Abstract

Oral-facial-digital syndrome (OFDS) is a group of disorders characterized by oral cavity malformation, facial deformities and digits anomalies. There are at least 13 forms of OFDS, in which most of them have brain anomalies and different degrees of mental retardation. We have reported two cases with quite different dysmorphic features. The first case was a female and had small wide-spaced eyes, wide nose bridge, middle line cleft of upper lip, cleft hard palate, microglossia, micrognathia, polydactyly and syndactyly of the upper and lower limbs. Moreover, she had congenital hypotonia. Brain and abdominal ultrasound studies were normal. The baby's mother had a history of losing her first pregnancy resulted from intrauterine fetal death who was presented with similar dysmorphic features. The second case was a 4-year-old male who had dysmorphic features; Antimongoloid eye slant, prominent ears, broad nose bridge, high arched palate, cleft soft palate, lingual nodule, preaxial and posaxial polydactyly with syndactyly in both hands, bilateral bifid thumbs and bilateral clinodactyly. Feet had polydactyly with syndactyly, and bifid big toe shape. The first time, that two cases with characteristic features of oral facial digital syndrome type II to be diagnosed in two Palestinian siblings of different family with consanguineous marriage.